Linked Data
ClinVar Variation Id:
1353975
ClinVar RCV Id:
RCV001887701
dbSNP Id:
rs1018184246
gnomAD v2:
10-48389259-A-G
gnomAD v4:
10-47350103-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350103T>C , CM000672.2:g.47350103T>C | GRCh38 |
| NC_000010.10:g.48389259A>G , CM000672.1:g.48389259A>G | GRCh37 |
| NC_000010.9:g.48009265A>G | NCBI36 |
| NG_029718.1:g.6733T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1619T>C MANE Select | ENSP00000463151.1:p.Leu540Pro | |
| ENST00000584701.1:c.1619T>C | ENSP00000463151.1:p.Leu540Pro | |
| NM_002900.2:c.1619T>C | NP_002891.1:p.Leu540Pro | |
| NM_002900.3:c.1619T>C MANE Select | NP_002891.1:p.Leu540Pro |